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Mthfr c677t homozygous

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  • Mthfr c677t homozygous

    Hello there, I am glad I finally found a message board where I could talk to a doctor. I am currently a RN in a cardiac/neuro icu unit, so unforuntunately just being pregnant I already am aware of a lot of the possible complications. I am also positive for MTHFR C677T homozygous gene. I have had two previous miscarriages, one at 11 weeks and 1 at 7 weeks. My MD put me on 1 Metanx a day, prenatal, baby aspirin, and heparin 5,000 units BID. I also took it upon myself after reading the studies and took a OTC Folgard to boost my folic acid intake. I am now 22 weeks along and everything has progressed normally. The most recent ultrasound showed no complications. I trust my doctor and do not want to upset him but I recently asked him with all the precautions we are taking if I should see a perinatologist and he said no as long as there are no complications. But I was kinda shocked by that response. DO you think I need to see one or am I being the horrible patient I always thought I would be? Thank you.

  • #2
    Request for best treatment option for recurrent cystic hygroma with hydrops fetalis

    Good morning. My name is Dr. Durga Rao (Human Geneticist) from Hyderabad, India. I have gone through your publications and your expert suggestions related to immune related pregnancy conditions in inciid forums <>. As you are the world leader in reproductive immunology, I am writing this email to get your valuable suggestion regarding a unique case that we recently investigated. A couple visited our genetic diagnostic center with immune related pregnancy losses (pregnancies terminated twice due to recurrent cystic hygroma with hydrops fetalis). Chromosomal analysis of the couples and the abortus material are normal. We screened inherited thrombotic panel for MTHFR (C677T, A1298C), Factor V Leiden and PAI-1 (4g/5g polymorphism) mutations. The only significant variation in the female partner is PAI-1 4G/4G allele. The male partner has 4G/5G (heterozygous) and also heterozygous for A1298C. As the 4G allele is present in both the partners this can have an impact on the fetus. From your experience what would be the best treatment option for individuals with PAI-1 4G/4G allele. Thanks so much for your time and please let me know if you need more information regarding this case.

    Best Regards,
    Durga Rao

    Dr. Durga Rao